An Ontological Characterization of a Conceptual Model of the Human Genome

The ability to sequence the human genome is a scientific, historical breakthrough. Although the human genome mapping is available to all scientists, information about it can be difficult to share. The Conceptual Schema of the Human Genome represents the concepts required to holistically understand the human genome. We report on our continued efforts to ensure that the human genome can be meaningfully shared by conducting an ontological analysis and enrichment of the conceptual model to facilitate domain understanding and data exchange among heterogeneous systems. The analysis and enrichment process is supported by the ontology-driven conceptual modeling language, OntoUML, to gain ontological clarity and demonstrated on a relevant section of the Pathways view of the schema. Consistent with the overall objective of designing a sound genomics information system, the results lead to major modeling implications for the: characterization of biological entities; changes in biological entities over time; and representation of chemical compounds. Our research shows that the inclusion of a strong ontological foundation in a conceptual model contributes to the design of complex systems.